A variant of the 'DIDMOAD' syndrome: (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness)
| Autor: | Eitan Friedman, Z. Farfel, A. Blau |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty endocrine system diseases Eye disease Vision Disorders Disease Deafness Eye Diabetes Complications Consanguinity Atrophy Internal medicine Diabetes mellitus Diabetes Mellitus otorhinolaryngologic diseases Genetics medicine Humans Eye Abnormalities Sibling Genetics (clinical) business.industry Syndrome Middle Aged medicine.disease Pedigree Endocrinology Diabetes insipidus Optic nerve Female Sensorineural hearing loss business Diabetes Insipidus |
| Zdroj: | Clinical Genetics. 29:79-82 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1986.tb00774.x |
| Popis: | A 29-year-old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the "DIDMOAD" (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected patient. |
| Databáze: | OpenAIRE |
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